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Articles from Case Reports in Genetics (January 1, 2017)

1-24 out of 24 article(s)
Title Author Type Words
A Newborn with Panhypopituitarism and Seizures. Kale, Trupti; Patil, Rachit; Pandit, Ramesh Clinical report 2059
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Whittington, Julie R.; Poole, Aaron T.; Dutta, Eryn H.; Munn, Mary B. Clinical report 1124
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. Sanchez, Ana Isabel; Rojas, Jorge Armando Clinical report 2270
An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly. Carter, J.; Brittain, H.; Morrogh, D.; Lench, N.; Waters, J.J. Clinical report 1399
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature. Sanchez-Montenegro, Carlos; Vilanova-Sanchez, Alejandra; Barrena-Delfa, Saturnino; Tenorio, Jair; Sa Clinical report 8236
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Najafi, Kimia; Kariminejad, Roxana; Hosseini, Kaveh; Moshtagh, Azadeh; Abbassi, Gole Maryam; Sadatia Clinical report 1973
FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome? Mendieta-Zeron, Hugo; Jimenez-Rosales, Angelica; Perez-Amado, Carlos Jhovani; Jimenez-Morales, Silvi Clinical report 4721
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. Ali, A.M.; Mbwasi, R.M.; Kinabo, G.; Kamsteeg, E.-J.; Hamel, B.C.; Dekker, M.C.J. Clinical report 3265
Further Evidence That the CFTR Variant c.2620-6T>C Is Benign. Wallerstein, Violet I.; Wallerstein, Robert Clinical report 867
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association. Chaudhary, Nagendra; Shrestha, Sandeep; Halwai, Hemant Kumar Clinical report 2089
Methylmalonic Acidemia with Novel MUT Gene Mutations. Panigrahi, Inusha; Bhunwal, Savita; Varma, Harish; Singh, Simranjeet Clinical report 1050
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. Guala, Andrea; Spunton, Marianna; Kalantari, Silvia; Kennerknecht, Ingo; Danesino, Cesare Clinical report 1909
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature. Baek, William S.; Aypar, Umut Clinical report 2182
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Zimmermann, Michael T.; Urrutia, Raul A.; Blackburn, Patrick R.; Cousin, Margot A.; Boczek, Nicole J Clinical report 2038
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies. Bloor, Samuel; Giri, Dinesh; Didi, Mohammed; Senniappan, Senthil Clinical report 2835
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer. Garcia, Sofia; Schuh, Michael; Cheema, Anvir; Atwal, Herjot; Atwal, Paldeep S. Clinical report 3216
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Conboy, Erin; Vairo, Filippo; Waggoner, Darrel; Ober, Carole; Das, Soma; Dhamija, Radhika; Klee, Eri Clinical report 2066
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly. Naud, Marie-Emmanuelle; Tosca, Lucie; Martinovic, Jelena; Saada, Julien; Metay, Corinne; Drevillon, Clinical report 3051
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania. Shao, Elichilia R.; Kiyegi, Lucas F.; Mwasamwaja, Amos O.; Kilonzo, Kajiru; Hamel, Ben C.J. Report 2266
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. Bulut, Ozgul; Zeynep, Ince; Altunoglu, Umut; Yildirim, Sukran; Coban, Asuman Clinical report 1682
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. Zech, Michael; Poustka, Katharina; Boesch, Sylvia; Berutti, Riccardo; Strom, Tim M.; Grisold, Wolfga Clinical report 3626
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Nguyen, Thi Kim Lien; Pham, Van Dem; Nguyen, Thu Huong; Pham, Trung Kien; Nguyen, Thi Quynh Huong; N Clinical report 4663
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene--Expanding the Clinical Phenotype. Sanchez, Ana Isabel; Rincon, Alejandra; Garcia, Mary; Suarez-Obando, Fernando Report 2105
What Drives Embryo Development? Chromosomal Normality or Mitochondria? Bayram, A.; Elkhatib, I.; Arnanz, A.; Linan, A.; Ruiz, F.; Lawrenz, B.; Fatemi, H.M. Clinical report 2260

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